Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome.

ABSTRACT: Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal muscle myopathy and fatigue, growth restriction, and neutropenia. Neutropenia increases the risk of life-threatening bacterial infections, a major cause of death in individuals with BTHS. Currently, there is no curative treatment for BTHS or associated neutropenia. The development of therapeutic strategies to correct BTHS-associated neutropenia has been hindered by a limited understanding of the underlying molecular mechanisms involved. BTHS is caused by a mutation in the Tafazzin gene encoding a transacylase required for the maturation of cardiolipin, an inner mitochondrial membrane phospholipid crucial for mitochondrial structure and function. We introduced a BTHS patient's point mutation (T

SUBMITTER: Sierra Potchanant EA 

PROVIDER: S-EPMC12408712 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature